ClinVar Miner

Submissions for variant NM_020247.5(COQ8A):c.1285T>C (p.Tyr429His)

dbSNP: rs2148132744
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001802632 SCV002049142 uncertain significance Autosomal recessive ataxia due to ubiquinone deficiency 2021-11-30 criteria provided, single submitter clinical testing

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